Early psychosis in Thauvin‐Robinet‐Faivre syndrome, a complication of the disease? - Andreou - 2022 - Clinical Genetics - Wiley Online Library
Frontiers | PHIP-associated Chung-Jansen syndrome: Report of 23 new individuals
☎️ Contacts du Dr Christel Thauvin Robinet, Geneticien à Dijon 21000
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes. - Abstract - Europe PMC
International study led by University College Dublin uncovers mechanism behind Joubert syndrome - Research & Innovation
PDF) Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders | Anne-Laure Mosca-Boidron - Academia.edu
Christel Thauvin-Robinet - Translad
NOTCH2 backstage | PPT
Team - Translad
Table of contents | Journal of Epidemiology & Community Health
Christel Thauvin-Robinet: H-index & Awards - Academic Profile | Research.com
Christel Thauvin-Robinet - Translad
Frontiers | The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol
Primary Progressive Aphasia Associated With GRN Mutations | Neurology
Dominant variants in the splicing factor PUF60 cause a recognizable syndrome with intellectual disability, heart defects and short stature | European Journal of Human Genetics
Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected,Neurobiology of Disease - X-MOL
OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin Karlien L.M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, - ppt video online download
Epidemiology of isolated preaxial polydactyly type I: Data from the Polish Registry of Congenital Malformations (PRCM) – topic of research paper in Biological sciences. Download scholarly article PDF and read for free
Christel THAUVIN-ROBINET | Researcher | University of Burgundy, Dijon | UB | L'équipe Génétique des Anomalies du Développement (GAD) | Research profile
Christel THAUVIN-ROBINET | Researcher | University of Burgundy, Dijon | UB | L'équipe Génétique des Anomalies du Développement (GAD) | Research profile
Clinical spectrum of MTOR-related hypomelanosis of Ito with neurodev
Déficiences intellectuelles de causes rares du CHU de Dijon - PEMR - Plateforme d'expertise Maladies Rares Bourgogne Franche-Comté PEMR – Plateforme d'expertise Maladies Rares Bourgogne Franche-Comté
OFD1 Is Mutated in X-Linked Joubert Syndrome and Interacts with LCA5-Encoded Lebercilin Karlien L.M. Coene, Ronald Roepman, Dan Doherty, Bushra Afroze, - ppt video online download
